Canonical Allele Identifier: CA1605964326

Gene: GMDS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1917934A= , CM000668.2:g.1917934A=	GRCh38
NC_000006.11:g.1918168A= , CM000668.1:g.1918168A=	GRCh37
NC_000006.10:g.1863167A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380815.5:c.771+12169T= MANE Select	ENSP00000370194.4:n.771+12169T=
ENST00000380805.6:n.897+12169T=
ENST00000380815.4:c.771+12169T=	ENSP00000370194.4:n.771+12169T=
ENST00000530927.5:c.681+12169T=	ENSP00000436726.1:n.681+12169T=
ENST00000531690.5:n.250+12169T=
NM_001253846.1:c.681+12169T=	NP_001240775.1:n.681+12169T=
NM_001500.3:c.771+12169T=	NP_001491.1:n.771+12169T=
XM_006715066.1:c.772-7947T=	XP_006715129.1:n.772-7947T=
XM_011514500.1:c.681+12169T=	XP_011512802.1:n.681+12169T=
XM_011514501.1:c.771+12169T=	XP_011512803.1:n.771+12169T=
XM_011514502.1:c.771+12169T=	XP_011512804.1:n.771+12169T=
XM_011514507.1:c.643+41933T=	XP_011512809.1:n.643+41933T=
XM_006715066.3:c.772-7947T=	XP_006715129.1:n.772-7947T=
XM_011514502.3:c.771+12169T=	XP_011512804.1:n.771+12169T=
XM_011514507.2:c.643+41933T=	XP_011512809.1:n.643+41933T=
XM_017010752.1:c.510+12169T=	XP_016866241.1:n.510+12169T=
XR_001743349.2:n.954+12169T=
XR_001743350.2:n.955-7947T=
NM_001500.4:c.771+12169T= MANE Select	NP_001491.1:n.771+12169T=
NM_001253846.2:c.681+12169T=	NP_001240775.1:n.681+12169T=